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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Egln1 and polycythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Albiero E, etal., Haematologica. 2012 Jan;97(1):123-7. doi: 10.3324/haematol.2010.039545. Epub 2011 Aug 9.
  • The annotation has been inferred from sequence orthology with EGLN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Albiero E, etal., Haematologica. 2012 Jan;97(1):123-7. doi: 10.3324/haematol.2010.039545. Epub 2011 Aug 9.
  • 28 RGD objects have been annotated to polycythemia  (DOID:8432)
  • 34 papers in RGD have been used to annotate Egln1
  • Curation Notes: DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human)


    • An association has been curated linking Egln1 and polycythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Arsenault PR, etal., J Biol Chem. 2013 Nov 22;288(47):33571-84. doi: 10.1074/jbc.M113.482364. Epub 2013 Oct 11.
  • The annotation has been inferred from sequence orthology with Egln1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Arsenault PR, etal., J Biol Chem. 2013 Nov 22;288(47):33571-84. doi: 10.1074/jbc.M113.482364. Epub 2013 Oct 11.
  • 28 RGD objects have been annotated to polycythemia  (DOID:8432)
  • 34 papers in RGD have been used to annotate Egln1


    • An association has been curated linking Egln1 and polycythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bento C, etal., Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20.
  • The annotation has been inferred from sequence orthology with EGLN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Bento C, etal., Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20.
  • 28 RGD objects have been annotated to polycythemia  (DOID:8432)
  • 34 papers in RGD have been used to annotate Egln1
  • Curation Notes: DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human)


    • An association has been curated linking Egln1 and polycythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Percy MJ, etal., Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. Epub 2006 Jan 9.
  • The annotation has been inferred from sequence orthology with EGLN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Percy MJ, etal., Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. Epub 2006 Jan 9.
  • 28 RGD objects have been annotated to polycythemia  (DOID:8432)
  • 34 papers in RGD have been used to annotate Egln1
  • Curation Notes: DNA:missense mutation: :p.P317R (950C>G) (human)


    • An association has been curated linking Egln1 and polycythemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ladroue C, etal., Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644. Epub 2011 Sep 20.
  • The annotation has been inferred from sequence orthology with EGLN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Ladroue C, etal., Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644. Epub 2011 Sep 20.
  • 28 RGD objects have been annotated to polycythemia  (DOID:8432)
  • 34 papers in RGD have been used to annotate Egln1
  • Curation Notes: DNA:missense mutations, nonsense mutation: :multiple


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